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Number of items: 18.

Journal Article

Bifari, Inam N., Elkhamary, Sahar M., Bolz, Hanno J. and Khan, Arif O. (2016). The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. Br. J. Ophthalmol., 100 (6). S. 829 - 834. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno J. (2016). Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol., 100 (2). S. 209 - 216. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Al-Mesfer, Saleh, Al-Turkmani, Shahira, Bergmann, Carsten and Bolz, Hanno J. (2014). Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. Br. J. Ophthalmol., 98 (12). S. 1724 - 1729. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Becirovic, Elvir ORCID: 0000-0001-8801-0649, Betz, Christian, Neuhaus, Christine, Altmueller, Janine, Riedmayr, Lisa Maria, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Khan, Arif O., Bergmann, Carsten, Eisenberger, Tobias and Bolz, Hanno J. (2015). A TULP1 founder mutation, p.GIn301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. Br. J. Ophthalmol., 99 (4). S. 488 - 493. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Bergmann, Carsten, Eisenberger, Tobias and Bolz, Hanno J. (2015). A TULP1 founder mutation, p.GIn301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. Br. J. Ophthalmol., 99 (4). S. 488 - 493. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Bergmann, Carsten, Neuhaus, Christine and Bolz, Hanno J. (2015). A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations. Ophthalmic Genet., 36 (1). S. 79 - 85. LONDON: INFORMA HEALTHCARE. ISSN 1744-5094

Khan, Arif O., Bergmann, Carsten, Neuhaus, Christine and Bolz, Hanno J. (2015). A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations. Ophthalmic Genet., 36 (1). S. 79 - 85. LONDON: INFORMA HEALTHCARE. ISSN 1744-5094

Khan, Arif O., Bifari, Inam N. and Bolz, Hanno J. (2015). Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome. Ophthalmology, 122 (8). S. 1726 - 1728. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1549-4713

Khan, Arif O. and Bolz, Hanno J. (2015). Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations. Ophthalmic Genet., 36 (4). S. 349 - 353. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O. and Bolz, Hanno J. (2016). Phenotypic observations in hypotrichosis with juvenile macular dystrophy (recessive CDH3 mutations). Ophthalmic Genet., 37 (3). S. 301 - 307. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Bolz, Hanno J. and Bergmann, Carsten (2014). Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy. J. AAPOS, 18 (2). S. 203 - 206. NEW YORK: MOSBY-ELSEVIER. ISSN 1528-3933

Khan, Arif O., Bolz, Hanno J. and Bergmann, Carsten (2014). Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation. J. AAPOS, 18 (2). S. 134 - 140. NEW YORK: MOSBY-ELSEVIER. ISSN 1528-3933

Khan, Arif O., Decker, Eva, Bachmann, Nadine, Bolz, Hanno J. and Bergmann, Carsten (2016). C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet., 37 (3). S. 290 - 294. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Eisenberger, Tobias, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe and Bolz, Hanno J. (2015). C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium. Br. J. Ophthalmol., 99 (12). S. 1725 - 1732. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Lenzner, Steffen and Bolz, Hanno J. (2017). A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. Ophthalmic Genet., 38 (4). S. 380 - 383. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Nagl, Sandra, Bergmann, Carsten and Bolz, Hanno J. (2014). Limited Ocular Motility in a Child With 3q23 Microdeletion (Blepharophimosis Syndrome Plus). J. Pediatr. Ophthalmol. Strabismus., 51. S. E51 - 4. THOROFARE: SLACK INC. ISSN 1938-2405

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269

This list was generated on Thu May 6 05:32:27 2021 CEST.